Global Variome shared LOVD

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Phenotype #0000300853 Individual ID 00408734 Associated disease - Phenotype details best corrected visual acuity both eyes: 6/15; refraction right/left eye (spherical equivalent): +5.25-3.25x180deg / +5.0-3.0x5deg; strabismus: partially accommodative esotropia; colour vision (Ishihara): normal; nystagmus (primary position): horizontal jerk; anomalous head posture: chin up; anterior segment: normal; full field electroretinography: normal; electroencephalography: normal; magnetic resonance imaging: normal; optical coherence tomography: grade 3 foveal hypoplasia; visual evoked potentials: not performed Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite foveal hypoplasia and infantile nystagmus Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-26 14:31:10 +02:00 (CEST) Date last edited N/A

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